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Investigative Ophthalmology & Visual Science|January 1, 1982
Ultrastructure of the eye in fetal type II glycogenosis (Pompe's disease)K S Pokorny, R Ritch, A H Friedman, et al.Journal of Cellular Biochemistry|February 1, 1992
Comparison between avian and human prolyl 4-hydroxylases: studies on the holomeric enzymes and their constituent subunitsN A Guzman, W Q Ascari, K R Cutroneo, et al.Genomics|December 9, 2000
Human uroporphyrinogen-III synthase: genomic organization, alternative promoters, and erythroid-specific expressionG Aizencang, C Solis, D F Bishop, et al.American Journal of Human Genetics|December 15, 2000
Fabry disease: preclinical studies demonstrate the effectiveness of alpha-galactosidase A replacement in enzyme-deficient miceY A Ioannou, K M Zeidner, R E Gordon, et al.Journal of the American Academy of Dermatology|July 21, 2001
Treatment of severe congenital erythropoietic porphyria by bone marrow transplantationF A Harada, T A Shwayder, R J Desnick, et al.Molecular Genetics and Metabolism|October 6, 1998
Carrier frequency of the Bloom syndrome blmAsh mutation in the Ashkenazi Jewish populationL Li, C Eng, R J Desnick, et al.The Journal of Biological Chemistry|May 5, 1991
Human acid sphingomyelinase. Isolation, nucleotide sequence and expression of the full-length and alternatively spliced cDNAsE H Schuchman, M Suchi, T Takahashi, et al.Clinica Chimica Acta; International Journal of Clinical Chemistry|August 18, 1975
Fabry disease: diagnosis by alpha-galactosidase activities in tearsD L Johnson, M A Del Monte, E Cotlier, et al.American Journal of Human Genetics|July 1, 1991
delta-Aminolevulinate dehydratase deficient porphyria: identification of the molecular lesions in a severely affected homozygoteM Plewinska, S Thunell, L Holmberg, et al.Enzyme|January 1, 1987
Fabry disease: molecular diagnosis of hemizygotes and heterozygotesR J Desnick, H S Bernstein, K H Astrin, et al.Pageof 40